← Back to variant description
GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 19-18430914-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=18430914&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 18430914,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_032627.5",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SSBP4",
"gene_hgnc_id": 15676,
"hgvs_c": "c.353C>T",
"hgvs_p": "p.Ala118Val",
"transcript": "NM_032627.5",
"protein_id": "NP_116016.1",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 385,
"cds_start": 353,
"cds_end": null,
"cds_length": 1158,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000270061.12",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_032627.5"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SSBP4",
"gene_hgnc_id": 15676,
"hgvs_c": "c.353C>T",
"hgvs_p": "p.Ala118Val",
"transcript": "ENST00000270061.12",
"protein_id": "ENSP00000270061.5",
"transcript_support_level": 1,
"aa_start": 118,
"aa_end": null,
"aa_length": 385,
"cds_start": 353,
"cds_end": null,
"cds_length": 1158,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_032627.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000270061.12"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SSBP4",
"gene_hgnc_id": 15676,
"hgvs_c": "c.353C>T",
"hgvs_p": "p.Ala118Val",
"transcript": "ENST00000915352.1",
"protein_id": "ENSP00000585411.1",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 435,
"cds_start": 353,
"cds_end": null,
"cds_length": 1308,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915352.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SSBP4",
"gene_hgnc_id": 15676,
"hgvs_c": "c.353C>T",
"hgvs_p": "p.Ala118Val",
"transcript": "ENST00000867041.1",
"protein_id": "ENSP00000537100.1",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 365,
"cds_start": 353,
"cds_end": null,
"cds_length": 1098,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867041.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SSBP4",
"gene_hgnc_id": 15676,
"hgvs_c": "c.353C>T",
"hgvs_p": "p.Ala118Val",
"transcript": "NM_001009998.4",
"protein_id": "NP_001009998.1",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 363,
"cds_start": 353,
"cds_end": null,
"cds_length": 1092,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001009998.4"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SSBP4",
"gene_hgnc_id": 15676,
"hgvs_c": "c.353C>T",
"hgvs_p": "p.Ala118Val",
"transcript": "ENST00000348495.10",
"protein_id": "ENSP00000252807.7",
"transcript_support_level": 2,
"aa_start": 118,
"aa_end": null,
"aa_length": 363,
"cds_start": 353,
"cds_end": null,
"cds_length": 1092,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000348495.10"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SSBP4",
"gene_hgnc_id": 15676,
"hgvs_c": "c.350C>T",
"hgvs_p": "p.Ala117Val",
"transcript": "ENST00000867042.1",
"protein_id": "ENSP00000537101.1",
"transcript_support_level": null,
"aa_start": 117,
"aa_end": null,
"aa_length": 362,
"cds_start": 350,
"cds_end": null,
"cds_length": 1089,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867042.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SSBP4",
"gene_hgnc_id": 15676,
"hgvs_c": "c.353C>T",
"hgvs_p": "p.Ala118Val",
"transcript": "ENST00000964016.1",
"protein_id": "ENSP00000634075.1",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 351,
"cds_start": 353,
"cds_end": null,
"cds_length": 1056,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964016.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SSBP4",
"gene_hgnc_id": 15676,
"hgvs_c": "c.353C>T",
"hgvs_p": "p.Ala118Val",
"transcript": "ENST00000915353.1",
"protein_id": "ENSP00000585412.1",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 349,
"cds_start": 353,
"cds_end": null,
"cds_length": 1050,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915353.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SSBP4",
"gene_hgnc_id": 15676,
"hgvs_c": "c.353C>T",
"hgvs_p": "p.Ala118Val",
"transcript": "ENST00000964017.1",
"protein_id": "ENSP00000634076.1",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 343,
"cds_start": 353,
"cds_end": null,
"cds_length": 1032,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964017.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SSBP4",
"gene_hgnc_id": 15676,
"hgvs_c": "c.353C>T",
"hgvs_p": "p.Ala118Val",
"transcript": "ENST00000915354.1",
"protein_id": "ENSP00000585413.1",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 321,
"cds_start": 353,
"cds_end": null,
"cds_length": 966,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915354.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SSBP4",
"gene_hgnc_id": 15676,
"hgvs_c": "c.419C>T",
"hgvs_p": "p.Ala140Val",
"transcript": "ENST00000597724.6",
"protein_id": "ENSP00000475538.2",
"transcript_support_level": 5,
"aa_start": 140,
"aa_end": null,
"aa_length": 233,
"cds_start": 419,
"cds_end": null,
"cds_length": 704,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000597724.6"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SSBP4",
"gene_hgnc_id": 15676,
"hgvs_c": "c.47C>T",
"hgvs_p": "p.Ala16Val",
"transcript": "ENST00000602088.7",
"protein_id": "ENSP00000476084.2",
"transcript_support_level": 5,
"aa_start": 16,
"aa_end": null,
"aa_length": 116,
"cds_start": 47,
"cds_end": null,
"cds_length": 353,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000602088.7"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SSBP4",
"gene_hgnc_id": 15676,
"hgvs_c": "c.47C>T",
"hgvs_p": "p.Ala16Val",
"transcript": "ENST00000601357.6",
"protein_id": "ENSP00000475668.2",
"transcript_support_level": 5,
"aa_start": 16,
"aa_end": null,
"aa_length": 55,
"cds_start": 47,
"cds_end": null,
"cds_length": 169,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000601357.6"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SSBP4",
"gene_hgnc_id": 15676,
"hgvs_c": "c.419C>T",
"hgvs_p": "p.Ala140Val",
"transcript": "XM_006722665.5",
"protein_id": "XP_006722728.1",
"transcript_support_level": null,
"aa_start": 140,
"aa_end": null,
"aa_length": 457,
"cds_start": 419,
"cds_end": null,
"cds_length": 1374,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006722665.5"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SSBP4",
"gene_hgnc_id": 15676,
"hgvs_c": "c.386C>T",
"hgvs_p": "p.Ala129Val",
"transcript": "XM_047438365.1",
"protein_id": "XP_047294321.1",
"transcript_support_level": null,
"aa_start": 129,
"aa_end": null,
"aa_length": 446,
"cds_start": 386,
"cds_end": null,
"cds_length": 1341,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047438365.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SSBP4",
"gene_hgnc_id": 15676,
"hgvs_c": "c.353C>T",
"hgvs_p": "p.Ala118Val",
"transcript": "XM_047438366.1",
"protein_id": "XP_047294322.1",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 444,
"cds_start": 353,
"cds_end": null,
"cds_length": 1335,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047438366.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SSBP4",
"gene_hgnc_id": 15676,
"hgvs_c": "c.353C>T",
"hgvs_p": "p.Ala118Val",
"transcript": "XM_006722666.3",
"protein_id": "XP_006722729.1",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 435,
"cds_start": 353,
"cds_end": null,
"cds_length": 1308,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006722666.3"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SSBP4",
"gene_hgnc_id": 15676,
"hgvs_c": "c.419C>T",
"hgvs_p": "p.Ala140Val",
"transcript": "XM_047438367.1",
"protein_id": "XP_047294323.1",
"transcript_support_level": null,
"aa_start": 140,
"aa_end": null,
"aa_length": 435,
"cds_start": 419,
"cds_end": null,
"cds_length": 1308,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047438367.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SSBP4",
"gene_hgnc_id": 15676,
"hgvs_c": "c.338C>T",
"hgvs_p": "p.Ala113Val",
"transcript": "XM_047438368.1",
"protein_id": "XP_047294324.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 430,
"cds_start": 338,
"cds_end": null,
"cds_length": 1293,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047438368.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SSBP4",
"gene_hgnc_id": 15676,
"hgvs_c": "c.386C>T",
"hgvs_p": "p.Ala129Val",
"transcript": "XM_047438369.1",
"protein_id": "XP_047294325.1",
"transcript_support_level": null,
"aa_start": 129,
"aa_end": null,
"aa_length": 424,
"cds_start": 386,
"cds_end": null,
"cds_length": 1275,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047438369.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SSBP4",
"gene_hgnc_id": 15676,
"hgvs_c": "c.353C>T",
"hgvs_p": "p.Ala118Val",
"transcript": "XM_006722668.3",
"protein_id": "XP_006722731.1",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 413,
"cds_start": 353,
"cds_end": null,
"cds_length": 1242,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006722668.3"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SSBP4",
"gene_hgnc_id": 15676,
"hgvs_c": "c.419C>T",
"hgvs_p": "p.Ala140Val",
"transcript": "XM_005259790.4",
"protein_id": "XP_005259847.1",
"transcript_support_level": null,
"aa_start": 140,
"aa_end": null,
"aa_length": 407,
"cds_start": 419,
"cds_end": null,
"cds_length": 1224,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005259790.4"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SSBP4",
"gene_hgnc_id": 15676,
"hgvs_c": "c.353C>T",
"hgvs_p": "p.Ala118Val",
"transcript": "XM_047438377.1",
"protein_id": "XP_047294333.1",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 394,
"cds_start": 353,
"cds_end": null,
"cds_length": 1185,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047438377.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SSBP4",
"gene_hgnc_id": 15676,
"hgvs_c": "c.419C>T",
"hgvs_p": "p.Ala140Val",
"transcript": "XM_017026437.2",
"protein_id": "XP_016881926.1",
"transcript_support_level": null,
"aa_start": 140,
"aa_end": null,
"aa_length": 385,
"cds_start": 419,
"cds_end": null,
"cds_length": 1158,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017026437.2"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SSBP4",
"gene_hgnc_id": 15676,
"hgvs_c": "c.338C>T",
"hgvs_p": "p.Ala113Val",
"transcript": "XM_047438370.1",
"protein_id": "XP_047294326.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 380,
"cds_start": 338,
"cds_end": null,
"cds_length": 1143,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047438370.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SSBP4",
"gene_hgnc_id": 15676,
"hgvs_c": "c.326C>T",
"hgvs_p": "p.Ala109Val",
"transcript": "XM_047438371.1",
"protein_id": "XP_047294327.1",
"transcript_support_level": null,
"aa_start": 109,
"aa_end": null,
"aa_length": 376,
"cds_start": 326,
"cds_end": null,
"cds_length": 1131,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047438371.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SSBP4",
"gene_hgnc_id": 15676,
"hgvs_c": "c.326C>T",
"hgvs_p": "p.Ala109Val",
"transcript": "XM_047438372.1",
"protein_id": "XP_047294328.1",
"transcript_support_level": null,
"aa_start": 109,
"aa_end": null,
"aa_length": 354,
"cds_start": 326,
"cds_end": null,
"cds_length": 1065,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047438372.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SSBP4",
"gene_hgnc_id": 15676,
"hgvs_c": "c.47C>T",
"hgvs_p": "p.Ala16Val",
"transcript": "XM_047438373.1",
"protein_id": "XP_047294329.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 333,
"cds_start": 47,
"cds_end": null,
"cds_length": 1002,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047438373.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SSBP4",
"gene_hgnc_id": 15676,
"hgvs_c": "c.47C>T",
"hgvs_p": "p.Ala16Val",
"transcript": "XM_047438374.1",
"protein_id": "XP_047294330.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 333,
"cds_start": 47,
"cds_end": null,
"cds_length": 1002,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047438374.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SSBP4",
"gene_hgnc_id": 15676,
"hgvs_c": "c.47C>T",
"hgvs_p": "p.Ala16Val",
"transcript": "XM_047438375.1",
"protein_id": "XP_047294331.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 283,
"cds_start": 47,
"cds_end": null,
"cds_length": 852,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047438375.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SSBP4",
"gene_hgnc_id": 15676,
"hgvs_c": "c.47C>T",
"hgvs_p": "p.Ala16Val",
"transcript": "XM_047438376.1",
"protein_id": "XP_047294332.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 261,
"cds_start": 47,
"cds_end": null,
"cds_length": 786,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047438376.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "SSBP4",
"gene_hgnc_id": 15676,
"hgvs_c": "c.280-733C>T",
"hgvs_p": null,
"transcript": "ENST00000964018.1",
"protein_id": "ENSP00000634077.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 333,
"cds_start": null,
"cds_end": null,
"cds_length": 1002,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964018.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SSBP4",
"gene_hgnc_id": 15676,
"hgvs_c": "n.572C>T",
"hgvs_p": null,
"transcript": "ENST00000598159.6",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000598159.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SSBP4",
"gene_hgnc_id": 15676,
"hgvs_c": "n.338C>T",
"hgvs_p": null,
"transcript": "ENST00000600628.2",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000600628.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SSBP4",
"gene_hgnc_id": 15676,
"hgvs_c": "n.*366C>T",
"hgvs_p": null,
"transcript": "ENST00000601614.6",
"protein_id": "ENSP00000472975.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000601614.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SSBP4",
"gene_hgnc_id": 15676,
"hgvs_c": "n.*126C>T",
"hgvs_p": null,
"transcript": "ENST00000607020.5",
"protein_id": "ENSP00000476092.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000607020.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SSBP4",
"gene_hgnc_id": 15676,
"hgvs_c": "n.564C>T",
"hgvs_p": null,
"transcript": "XR_936164.4",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_936164.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SSBP4",
"gene_hgnc_id": 15676,
"hgvs_c": "n.*366C>T",
"hgvs_p": null,
"transcript": "ENST00000601614.6",
"protein_id": "ENSP00000472975.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000601614.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SSBP4",
"gene_hgnc_id": 15676,
"hgvs_c": "n.*126C>T",
"hgvs_p": null,
"transcript": "ENST00000607020.5",
"protein_id": "ENSP00000476092.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000607020.5"
}
],
"gene_symbol": "SSBP4",
"gene_hgnc_id": 15676,
"dbsnp": "rs535525251",
"frequency_reference_population": 0.00017674046,
"hom_count_reference_population": 0,
"allele_count_reference_population": 285,
"gnomad_exomes_af": 0.000186257,
"gnomad_genomes_af": 0.0000854229,
"gnomad_exomes_ac": 272,
"gnomad_genomes_ac": 13,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.1734054982662201,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.087,
"revel_prediction": "Benign",
"alphamissense_score": 0.1154,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.34,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.737,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_032627.5",
"gene_symbol": "SSBP4",
"hgnc_id": 15676,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.353C>T",
"hgvs_p": "p.Ala118Val"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}